1 Department of Pediatric Immunology, Faculty of Medicine, Ege University, Izmir, Turkey.
2 Dr Behcet Uz Children Training and Research Hospital, Department of Immunology, Izmir, Turkey.
Int J Immunopathol Pharmacol. 2018 Jan-Dec;32:2058738418779458. doi: 10.1177/2058738418779458.
Common variable immunodeficiency (CVID) and immunoglobulin A deficiency (IgAD) are the most prevalent primary immunodeficiency disorders. High rates of familial inheritance have been described in CVID and IgAD, but it is unknown in different ethnic populations. We aimed to determine the prevalence of familial cases and whether they showed more severe clinical characteristics than sporadic ones in Turkish patients. A total of 40 CVID and 70 IgAD patients and their 251 first-degree relatives (FDRs) were evaluated. Demographic, clinical, and laboratory data were reviewed. A familial case was defined as a patient with at least one affected FDR (A-FDR). The rate of parental consanguinity was 19.1%. There were 37 familial cases (37/110) (33.6%) with at least one A-FDR. There were 48 A-FDRs who had immunoglobulins lower than age-related normals (48/251) (19.1%). Pulmonary infections were significantly higher in familial cases. To our knowledge, this study includes the highest number of CVID/IgAD patients and their FDRs in literature. Familial cases are at least 30% of the IgAD and CVID patients, and they have more frequent lower respiratory tract infections than sporadic ones, so these patients have to be evaluated depending on their being familial or sporadic for better management. The risk of carrying any immunologic alterations in relatives of patients with IgAD and CVID is approximately 20%. Although most A-FDRs are asymptomatic, considering the risk of progression to CVID by age, we highly recommend routine screening for FDRs.
普通变异性免疫缺陷症（CVID）和免疫球蛋白 A 缺乏症（IgAD）是最常见的原发性免疫缺陷症。CVID 和 IgAD 存在较高的家族遗传率，但在不同种族人群中的情况尚不清楚。我们旨在确定家族病例的患病率，以及它们在土耳其患者中的临床表现是否比散发病例更严重。共评估了 40 例 CVID 和 70 例 IgAD 患者及其 251 位一级亲属（FDR）。回顾了人口统计学、临床和实验室数据。家族病例定义为至少有一位受影响的 FDR（A-FDR）的患者。父母近亲结婚率为 19.1%。共有 37 个家族病例（37/110）（33.6%）至少有一个 A-FDR。有 48 个 A-FDR 的免疫球蛋白低于年龄相关正常值（48/251）（19.1%）。家族病例的肺部感染明显更高。据我们所知，这项研究包括了文献中 CVID/IgAD 患者及其 FDR 数量最多的一次。家族病例至少占 IgAD 和 CVID 患者的 30%，且他们比散发病例更频繁地发生下呼吸道感染，因此这些患者必须根据其家族性或散发性进行评估，以便进行更好的管理。IgAD 和 CVID 患者的亲属携带任何免疫异常的风险约为 20%。尽管大多数 A-FDR 无症状，但考虑到随年龄发展为 CVID 的风险，我们强烈建议对 FDR 进行常规筛查。
